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Journal of the Korean Child Neurology Society 2003;11(2):367-371.
Published online November 30, 2003.
A Case of Familial Hemiplegic Migraine.
Young Sa-Kong, Bong Hwan Lee, Sang Nam Bae, Kyun Woo Lee, Sang Ook Nam
1Department of Pediatrics, Dae Dong Hospital.
2Department of Pediatrics, College of Medicine, Busan National University, Busan, Korea. weareone@MDhouse.com
Abstract
Familial hemiplegic migraine(FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of hemiplegia during the aura. Two subforms of FHM families exist; pure FHM in 80% and FHM families with cerebellar symptoms in 20%. Half of the known FHM families show genetic linkage to chromosome 19p13, and in these families FHM is caused by missense mutations in a neuronal P/Q type calcium channel alpha-1 subunit gene(CACNA1A gene). Linkages to 1q31 and 1q21-23 have also been established. Other families are linked neither to chromosome 19 nor 1. Clinical variabilities are partially associated with the various types of CACNA1A gene mutations. FHM is distinguished from more frequent migraine types by a clear, dominant inheritance pattern and the relative absense of other headache types. Further investigation of FHM will help to clarify the genetics of more common migraine. We describe a male patient with FHM with a brief review of the literature.
Key Words: Familial hemiplegic migraine, Mutations, CACNA1A gene, Chromosome


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